Varaico: Literature-Extracted Genetic Variants

SIAE

47 papers

RefSeq Summary

This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript varian...

Pfam Domains

SASAaa 117–377UCSCCarbohydrate esterase, sialic acid-specific acetylesterase

SIAE_Caa 410–510UCSCSialate O-acetylesterase C-terminal domain

Gene Aliases

HGNC Name

sialic acid acetylesterase

HGNC Previous Symbol

YSG2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 155 variants

12 papers

NM_170601.5

p.M89V

c.265A>G

7 papers

NM_170601.5

p.A467V

c.1400C>T

6 papers

NM_170601.5

p.F404S

c.1211T>C

5 papers

NM_170601.5

p.G64S

c.190G>A

5 papers

NM_170601.5

p.K71R

c.212A>G

5 papers

NM_170601.5

p.C196F

c.587G>T

5 papers

NM_170601.5

p.Y349C

c.1046A>G

4 papers

NM_170601.5

p.R230W

c.688C>T

4 papers

NM_170601.5

p.T312M

c.935C>T

4 papers

NM_170601.5

p.R479C

c.1435C>T

3 papers

NM_170601.5

p.N33S

c.98A>G

3 papers

NM_170601.5

p.W48*

c.143G>A